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Publication

eXtasy : Variant prioritization by genomic data fusion

Journal Contribution - Journal Article

Massively parallel sequencing greatly facilitates the discovery of novel disease genes causing Mendelian and oligogenic disorders. However, many mutations are present in any individual genome, and identifying which ones are disease causing remains a largely open problem. We introduce eXtasy, an approach to prioritize nonsynonymous single-nucleotide variants (nSNVs) that substantially improves prediction of disease-causing variants in exome sequencing data by integrating variant impact prediction, haploinsufficiency prediction and phenotype-specific gene prioritization.
Journal: Nature Methods
ISSN: 1548-7091
Issue: 11
Volume: 10
Pages: 1083 - 1084
Publication year:2013